Prenatal Screening & Diagnostic Tests/ Assessment

Goals for Prenatal Screening/Testing

1. To determine the risk for congenital anomalies (screening) 2. Detect and diagnose congenital anomalies 3. To evaluate the condition of the fetus 4. Reduce perinatal morbidity and mortality

Indications for Screening/Testing

Fetal condition fetal hydrops, anomalies Maternal condition
Preexisting
AMA, cardiac disease, hypertension, diabetes, repeated miscarriages (+) family history of genetic disease

Pregnancy related
teratogen exposure, preeclampsia, twins

Prenatal Screening/Testing
Preconception screening is ideal to evaluate general health, nutrition, vitamin intake, history of self and family, and psychological well-being During pregnancy, practitioners screen for fetal well being at each visit (FHT, +FM, growth) Screening tests offered at specific points in gestation Diagnostic testing indicated when screens demonstrate a fetus with high probability for a disorder often invasive

Prenatal Testing
Genetic testing (CVS, amniocentesis, PUBS) offered to high-risk women Ultrasound offered throughout pregnancy to determine fetal viability, activity, growth and anomalies Electronic fetal monitoring in 2nd/3rd trimesters to determine fetal neurological response

Triple Marker Screen

Purpose
Identifies the probability of a fetus with an open neural tube defect, trisomy 21, and other trisomies All pregnant women are offered this screening test between 15-20 weeks gestation

Indications
Technique

Blood test for 3 maternal serum markers maternal serum alphafeto-protein (MSAFP), hCG and estriol (quad screen adds inhibin A)

Alpha-Fetoprotein
Alpha-fetoprotein is a glucoprotein - the predominant protein in fetal plasma. Produced by the fetal liver Excreted through fetal urine into the AF through an open neural tube or ventral wall defect Passes through the placenta to the maternal circulation

Triple Marker Screen

Spina Bifida/Anencephaly
MSAFP

Calculates risk for Down Syndrome

MSAFP estriol HcG

Possible Causes of Elevated MSAFP

Defined as 2.0 or 2.5 SD above the mean Open neural tube defects 85% detection rate Abdominal wall defects (omphalocele, gastroschisis) Increased amount leaked by fetal kidney (hydronephrosis) Multiple gestation Intrauterine fetal death Underestimation of gestational age Unexplained elevation (1%)

Possible Causes of Low MSAFP

Chromosomal trisomies (eg. Down Syndrome identifies up to 84%) Overestimation of gestational age Overdilution of serum (e.g., secondary to maternal obesity)

Procedure
All pregnant women should be offered the test between 15 and 20 weeks of gestation Emphasize that it is a screening test Further tests will be done to investigate abnormal values - ultrasound and amniocentesis if indicated Emotional support Education for the patient

Advantages
A simple procedure that require a sample of maternal blood Least invasive and most economic procedure to screen for an open neural defect or chromosome abnormality. Prenatal diagnosis allows parents time to examine options.

 Screening test only False positives are anxiety provoking Not available to women beginning prenatal care after the 20th week gestation Because closed neural tube defects do not produce elevated levels of AFP, normal levels do not guarantee the baby is free of anomalies Protein levels affected by maternal diabetes, maternal weight, maternal and fetal age

Limitations

Chorionic Villus Sampling(CVS)

CVS is a method to obtain genetic fetal tissue Performed early - at approximately 9 to 12 weeks of gestation The technique may be transvaginal or transabdominal

CVS
Chorionic villus are microscopic projections from the outer membrane (chorion) that develop and burrow into endometrial tissue as the placenta is formed. The villi are composed of rapidly dividing cells of fetal origin that reflect the chromosomal and genetic makeup of the fetus

Indications for CVS

Chorionic villus sampling is recommended only for women who are at higher risk for giving birth to an infant with genetic anomalies.
Women who will be past the age of 35 years at delivery History of a previous fetus with anomalies Couples who are carriers or who exhibit genetic defects

Procedure for CVS

Performed under aseptic technique with ultrasound visualization A full bladder enhances transmission of ultrasonic waves into the uterus
Transcervical lithotomy positon, use a uterine sound to dilate the cervix, and flexible catheter is inserted (need to check for vaginal infection first gonorrhea) Transabdominal - a needle is inserted through the abdominal and uterine walls to the site and villi are aspirated into a syringe

CVS
Risks
Pregnancy loss rate is higher than with amniocentesis 1% due to infection, bleeding, leakage of amniotic fluid Risk for Rhsensitization (Rhogam) Cannot test for open NTDs limb reduction defects?

Advantages
Can be performed earlier in gestation with more options for termination of pregnancy if desired Quick turnaround time 1 3 days) but this depends on the laboratory and how quickly the cells grow in a culture

Amniocentesis
Purpose aspiration of amniotic fluid from the amniotic sac for
genetic studies (uses sloughed fetal cells) presence of open NTDs degree of Rh isoimmunization determine presence/type intrauterine infection relieve polyhydramnios determine fetal lung maturity (L/S ratio of 2:1/PG +)

May be performed during the second or third trimester (as early as 12 to 14 weeks) The classic timing for a genetic amniocentesis is approximately 16 weeks of gestation

Indications for Second Trimester Amniocentesis

Maternal age >35 years Chromosomal abnormalities in close family members or history of delivering a baby with chromosomal disorder/NTD Sex determination for maternal carrier X linked disorder Maternal Rh sensitization R/O chorioamnionitis Recurrent pregnancy loss Determine FLM in women with diabetes Determine level of bilirubin in amniotic fluid

Amniocentesis Procedure
Consent signed and witnessed Supine position with hip wedge - BP/FHTs Largest accessible pocket of amniotic fluid determined with sonogram Abdomen prepared with antiseptic Needle inserted through abdomen/uterus 20cc withdrawn note color Fetal monitoring afterwards RhoGam if indicated

Amniocentesis
Advantages
Decreased risk of pregnancy loss compared to CVS if performed after 16 weeks gestation (0.5%) Ideal for detecting open NTDs confirms presence of acetlycholinesterase

Amniocentesis
Disadvantages
Risk of injury to fetus and umbilical cord Risk of infection Risk of spontaneous abortion w/early procedure - 1% (less in 2nd/3rd trimester) Risk of Rh sensitization (RhoGam to Rh-) Timing is later with longer turnaround time for genetic study results (10 to 14 days); this limits options for termination of pregnancy if desired

Percutaneous Umbilicus Blood Sampling

PUBS (also called cordocentesis) - the aspiration of fetal blood from the umbilical cord for prenatal diagnosis or therapy

Indications
Diagnosis of Rh disease, genetic studies, diagnosis of abnormal blood-clotting factors and acid-base status of the fetus If indicated, can transfuse a fetus via PUBS (severely anemic fetus)

Risks of PUBS
Leakage of blood from the umbilical puncture site Fetal bradycardia Chorioamnionitis Early fetal loss Cord laceration Cord hematoma Premature labor Thromboembolism

CVS/Amniocentesis/PUBS Patient Education

Drink 6 to 8 glasses of water prior to testing (for 1st trimester testing especially) Tests take about 15 minutes May need FHM afterwards for contractions/FHR (if over 24 weeks IUP) Please bring support person If Rh(-) Ab(-) - will need RhoGam Availability of results

CVS/Amniocentesis/PUBS Patient Education

Risks associated with genetic diagnostic procedures include:
Spontaneous abortion Infection Amniotic fluid leakage Spotting/bleeding Cramping Pain

CVS/Amniocentesis/PUBS
Patient Education Post Procedure
Inform patients of what to expect post procedure and danger signs Most symptoms subside by 24 hours but call doctor if they persist or if they experience:
Elevated temperature Heavy bleeding Leakage of fluid Uterine contractions

Ultrasound Scanning
Ultrasonography uses high frequency sound waves to create an image of the fetus and intrauterine environment on a monitor screen; no established risks.
Early - first trimester Targeted specific organs evaluated Level I - viability, EGA, placenta, AFI, r/o breech Level II body systems; diagnostic

Types

Description of Procedure
Outpatient basis Full urinary bladder for abdominal scan during the first trimester so that the uterus will be elevated out of the pelvis Lithotomy position for transvaginal scan Comfortable position on exam table Transvaginal probe coated with lubrication or Conducive gel placed on abdominal wall

Ultrasound - Indications
Confirm pregnancy/viable pregnancy Verify the location of the pregnancy (uterine) Detect multifetal viability Determine gestational age (CRL) Detect maternal uterine anomalies Measure nuchal translucency

First Trimester

1st Trimester Ultrasound

Determine the position of the uterus, cervix, and area of placental formation for transcervical chorionic villus sampling Guide the needle insertion for transabdominal chorionic villus sampling

Ultrasound - Second and Third Trimesters

Confirm gestational age/monitor growth Locate the placenta Determine fetal presentation Evaluate amniotic fluid volume Monitor and document fetal movements Guide needle placement for amnio/PUBS Screen for/detect fetal anomalies

Structural Anomalies Identifiable by US

Cardiac anomalies - hypoplastic left heart Central nervous system - anencephaly, NTD Fetal tumors - teratoma GI - gastroschisis, atresia, cleft lip (not palate) GU - polycystic kidneys Skeletal - short-limb dysplasia Pulmonary - diaphragmatic hernia

Fetal Movement Counts

Based on the premise that a decrease in the number of fetal movements reflects decreased placental function and possible impending fetal demise Follow-up with NST if decreased movement noted Thank the patient for counting and calling results Different methods - what is important is maternal perception
Cardiff count-to-ten method count for an hour after meals; want 4-10/hr

Fetal Movement Counting

Advantages
Easy, inexpensive, noninvasive 80-90% correlation between maternal perception and actual fetal movement

Nonstress Test
A nonstress test is a noninvasive test that measures the ability of the fetal heart to respond to fetal movements. Purpose - To assess fetal-well being by evaluating the ability of the fetal heart to accelerate with fetal movement.
Acceleration of the fetal heart rate indicates

adequate oxygenation, a healthy neural pathway from the central nervous system to the fetal heart,and the ability of the fetal heart to respond to stimuli.

Procedure
The test is termed nonstress because it consists of monitoring only x 20 to 40 min Patient sits in a reclining chair or in bed in a semi-Fowlers position to prevent supine hypotension; BP taken/last food intake noted External fetal monitor is applied Patient may press a remote marker every time she feels the fetus move

Interpretation of NST
Reactive (15 x 15 rule)
At least two fetal heart rate accelerations, with or without fetal movement, occurring within a 20 minute period which meet the 15 x 15 rule If no accels in 20 minutes, may use vibroacoustic stimulation

Nonreactive

Does not meet the criteria Requires further testing (BPP or CST)

Nonstress Test
Advantages
Noninvasive with rapid results

Limitations
High rate of false (+) Fetal sleep most common reason for NR-NST Need to consider age of the fetus when interpreting the tracing Expensive

Contraction Stress Test

Recording the response of the fetal heart rate to stress of uterine contractions Contraindicated in pregnancies where preterm contractions present a danger Indications for test
Nonreactive NST Fetal oxygenation may be compromised during contractions.

Procedure
External fetal monitor applied Uterine contractions are induced by the administration of pitocin or through the release of oxytocin by nipple stimulation (if not spontaneously contraction already). Testing is achieved when there are 3 palpable contractions of at least 40 seconds duration in a 10-minute period Time consuming and expensive

Interpretation
Negative (normal) - no late or variable decelerations Positive (abnormal) - presence of late or variable decelerations with at least 50% of the contractions; further testing or delivery. Equivocal/suspicious - Intermittent late or variable decelerations Unsatisfactory - fewer than three contractions within 10 minutes or a poorquality tracing

Biophysical Profile (BPP)

Non-invasive monitoring and ultrasound (30 minutes maximum time allotted for sono)
Assesses 5 parameters of fetal well-being: Chronic marker
amniotic fluid index (AFI normal 8 - 20 cm)

Acute markers
NST fetal breathing movements gross fetal movement fetal tone

Amniotic Fluid Volume (AFV)

AFI- Amniotic Fluid Index
Average of the amniotic fluid pockets, measured vertically, in four quadrants around the maternal umbilicus Absence of fluid pockets Crowding of fetal arms and legs Largest single pocket is less then 2cm Impression of floating infant Free movement of fetal limbs A single pocket measured is more then 12cm

Oligohydramnios (AFI < 5)

Polyhydraminos (AFI > 20)

BPP Interpretation
Each parameter is scored 2 (normal) or 0 (abnormal) 8-10 = normal (unless -2 is for low AFI) 6 = equivocal - retest in 6 -24 hours 4 or < = abnormal and delivery may be indicated

Prenatal Testing- RN Role

Preparation of patient
Education
and necessary supplies It important that patients know what the result mean Discuss options after test result are obtain. The what ifs? Support and provide resources for patients decisions

Counseling

Support

Case Study
A 40 year old obese women at 18 weeks of gestation is having a triple marker test performed. After reviewing her prenatal record you find her history is uneventful and all prenatal labs are normal and her blood type is A-. She wants to know, why do I need to have this test and what does it test for?

Case Study (cont.)

She returns to the office 1 week later to discuss the results of the test. Results showed a low level of maternal serum alpha fetal protein The doctor discusses the finding and then you go in to schedule a follow up appt., and the patient asks you Does my baby have Down Syndrome? What is your response? How would you explain the finding of the test?

Case Study
You are working in a OB/GYN office and a patient says to you My doctor said that I need to be doing fetal movement counts. How do I do that?

Case Study (cont.)

That same patient calls the office a week later and says she has only felt the baby move a few times since yesterday.
What are your instructions to her?

Case Study (cont.)

You are now the OB triage nurse and the patient is coming in for a NST. As you are placing her on the monitor, she asks you what will this test show?
How would you interpret her monitor strip?